disgenetDiseases - data quality

Dataset statistics

Number of variables	16
Number of observations	84038
Missing cells	16885
Missing cells (%)	1.3%
Duplicate rows	0
Duplicate rows (%)	0.0%
Total size in memory	10.3 MiB
Average record size in memory	128.0 B

Variable types

NUM	9
CAT	7

Warnings

`geneSymbol` has a high cardinality: 9703 distinct values	High cardinality
`diseaseId` has a high cardinality: 11181 distinct values	High cardinality
`diseaseName` has a high cardinality: 11181 distinct values	High cardinality
`diseaseClass` has a high cardinality: 755 distinct values	High cardinality
`source` has a high cardinality: 51 distinct values	High cardinality
`DPI` is highly correlated with `DSI`	High correlation
`DSI` is highly correlated with `DPI`	High correlation
`diseaseClass` has 3637 (4.3%) missing values	Missing
`EI` has 4383 (5.2%) missing values	Missing
`YearInitial` has 4383 (5.2%) missing values	Missing
`YearFinal` has 4383 (5.2%) missing values	Missing
`NofSnps` is highly skewed (γ1 = 89.28782133)	Skewed
`NofPmids` has 7131 (8.5%) zeros	Zeros
`NofSnps` has 75760 (90.1%) zeros	Zeros

Reproduction

Analysis started	2020-11-18 22:52:29.404232
Analysis finished	2020-11-18 22:53:13.162224
Duration	43.76 seconds
Software version	pandas-profiling v2.9.0
Download configuration	config.yaml

geneId
Real number (ℝ_≥0)

Distinct	9703
Distinct (%)	11.5%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	719625.0238
Minimum	1
Maximum	109580095
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	1
5-th percentile	434
Q1	2662
median	5468
Q3	10457
95-th percentile	220972
Maximum	109580095
Range	109580094
Interquartile range (IQR)	7795

Descriptive statistics

Standard deviation	8284285.301
Coefficient of variation (CV)	11.51194723
Kurtosis	142.0155591
Mean	719625.0238
Median Absolute Deviation (MAD)	3412
Skewness	11.99847004
Sum	6.047584775e+10
Variance	6.862938294e+13
Monotocity	Increasing

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
7124	340	0.4%
6648	285	0.3%
3569	270	0.3%
5443	241	0.3%
5743	239	0.3%
7157	232	0.3%
3553	231	0.3%
4524	192	0.2%
4843	184	0.2%
5728	182	0.2%
Other values (9693)	81642	97.1%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
1	2	< 0.1%
2	26	< 0.1%
9	14	< 0.1%
10	39	< 0.1%
12	3	< 0.1%

Value	Count	Frequency (%)
109580095	5	< 0.1%
107305681	1	< 0.1%
107075310	1	< 0.1%
106783499	1	< 0.1%
106481323	2	< 0.1%

geneSymbol
Categorical

HIGH CARDINALITY

Distinct	9703
Distinct (%)	11.5%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

TNF	340
SOD2	285
IL6	270
POMC	241
PTGS2	239
Other values (9698)	82663

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
TNF	340	0.4%
SOD2	285	0.3%
IL6	270	0.3%
POMC	241	0.3%
PTGS2	239	0.3%
TP53	232	0.3%
IL1B	231	0.3%
MTHFR	192	0.2%
NOS2	184	0.2%
PTEN	182	0.2%
Other values (9693)	81642	97.1%

Frequencies of value counts

Unique

Unique	2161 ?
Unique (%)	2.6%

Histogram of lengths of the category

Length

Max length	12
Median length	5
Mean length	4.83180228
Min length	2

DSI
Real number (ℝ_≥0)

HIGH CORRELATION

Distinct	320
Distinct (%)	0.4%
Missing	40
Missing (%)	< 0.1%
Infinite	0
Infinite (%)	0.0%

Mean	0.5388791281
Minimum	0.231
Maximum	1
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	0.231
5-th percentile	0.324
Q1	0.445
median	0.533
Q3	0.623
95-th percentile	0.78
Maximum	1
Range	0.769
Interquartile range (IQR)	0.178

Descriptive statistics

Standard deviation	0.1341011444
Coefficient of variation (CV)	0.248851992
Kurtosis	0.1746056657
Mean	0.5388791281
Median Absolute Deviation (MAD)	0.088
Skewness	0.3534637234
Sum	45264.769
Variance	0.01798311694
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
0.445	756	0.9%
0.529	727	0.9%
0.379	646	0.8%
0.821	611	0.7%
0.628	597	0.7%
0.659	583	0.7%
0.674	578	0.7%
0.7	575	0.7%
0.619	574	0.7%
0.653	573	0.7%
Other values (310)	77778	92.6%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0.231	340	0.4%
0.236	232	0.3%
0.248	270	0.3%
0.266	167	0.2%
0.276	231	0.3%

Value	Count	Frequency (%)
1	284	0.3%
0.931	376	0.4%
0.89	430	0.5%
0.861	458	0.5%
0.839	550	0.7%

DPI
Real number (ℝ_≥0)

HIGH CORRELATION

Distinct	25
Distinct (%)	< 0.1%
Missing	59
Missing (%)	0.1%
Infinite	0
Infinite (%)	0.0%

Mean	0.6934339299
Minimum	0.038
Maximum	0.962
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	0.038
5-th percentile	0.231
Q1	0.577
median	0.769
Q3	0.846
95-th percentile	0.923
Maximum	0.962
Range	0.924
Interquartile range (IQR)	0.269

Descriptive statistics

Standard deviation	0.2123399344
Coefficient of variation (CV)	0.3062150917
Kurtosis	0.3762738081
Mean	0.6934339299
Median Absolute Deviation (MAD)	0.116
Skewness	-1.05059721
Sum	58233.888
Variance	0.04508824776
Monotocity	Not monotonic

Histogram with fixed size bins (bins=25)

Value	Count	Frequency (%)
0.808	9643	11.5%
0.885	9087	10.8%
0.846	8748	10.4%
0.769	6862	8.2%
0.731	5823	6.9%
0.923	5675	6.8%
0.692	4921	5.9%
0.654	3982	4.7%
0.962	3410	4.1%
0.615	3378	4.0%
Other values (15)	22450	26.7%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0.038	139	0.2%
0.077	733	0.9%
0.115	790	0.9%
0.154	800	1.0%
0.192	1008	1.2%

Value	Count	Frequency (%)
0.962	3410	4.1%
0.923	5675	6.8%
0.885	9087	10.8%
0.846	8748	10.4%
0.808	9643	11.5%

diseaseId
Categorical

HIGH CARDINALITY

Distinct	11181
Distinct (%)	13.3%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

C0006142	1074
C0036341	883
C0023893	774
C0009402	702
C0033578	616
Other values (11176)	79989

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
C0006142	1074	1.3%
C0036341	883	1.1%
C0023893	774	0.9%
C0009402	702	0.8%
C0033578	616	0.7%
C0376358	616	0.7%
C0678222	538	0.6%
C1458155	527	0.6%
C4704874	525	0.6%
C1257931	525	0.6%
Other values (11171)	77258	91.9%

Frequencies of value counts

Unique

Unique	6427 ?
Unique (%)	7.6%

Histogram of lengths of the category

Length

Max length	8
Median length	8
Mean length	8
Min length	8

diseaseName
Categorical

HIGH CARDINALITY

Distinct	11181
Distinct (%)	13.3%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

Malignant neoplasm of breast	1074
Schizophrenia	883
Liver Cirrhosis, Experimental	774
Colorectal Carcinoma	702
Prostatic Neoplasms	616
Other values (11176)	79989

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
Malignant neoplasm of breast	1074	1.3%
Schizophrenia	883	1.1%
Liver Cirrhosis, Experimental	774	0.9%
Colorectal Carcinoma	702	0.8%
Prostatic Neoplasms	616	0.7%
Malignant neoplasm of prostate	616	0.7%
Breast Carcinoma	538	0.6%
Mammary Neoplasms	527	0.6%
Mammary Neoplasms, Human	525	0.6%
Mammary Carcinoma, Human	525	0.6%
Other values (11171)	77258	91.9%

Frequencies of value counts

Unique

Unique	6427 ?
Unique (%)	7.6%

Histogram of lengths of the category

Length

Max length	177
Median length	23
Mean length	24.18607059
Min length	4

diseaseType
Categorical

Distinct	3
Distinct (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

disease	60478
phenotype	13653
group	9907

Frequencies
Length

Value	Count	Frequency (%)
disease	60478	72.0%
phenotype	13653	16.2%
group	9907	11.8%

Frequencies of value counts

Unique

Unique	0 ?
Unique (%)	0.0%

Histogram of lengths of the category

Length

Max length	9
Median length	7
Mean length	7.089150146
Min length	5

diseaseClass
Categorical

HIGH CARDINALITY
MISSING

Distinct	755
Distinct (%)	0.9%
Missing	3637
Missing (%)	4.3%
Memory size	656.5 KiB

C04	6576
C23;C10	5434
C06;C04	4201
F03	4177
C04;C17	3546
Other values (750)	56467

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
C04	6576	7.8%
C23;C10	5434	6.5%
C06;C04	4201	5.0%
F03	4177	5.0%
C04;C17	3546	4.2%
C25;F03	2623	3.1%
C14	2546	3.0%
C10	2464	2.9%
C06;C25	2445	2.9%
C23	2269	2.7%
Other values (745)	44120	52.5%
(Missing)	3637	4.3%

Frequencies of value counts

Unique

Unique	223 ?
Unique (%)	0.3%

Histogram of lengths of the category

Length

Max length	43
Median length	7
Mean length	6.534210714
Min length	3

diseaseSemanticType
Categorical

Distinct	28
Distinct (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

Disease or Syndrome	36204
Neoplastic Process	22380
Mental or Behavioral Dysfunction	9078
Pathologic Function	3383
Sign or Symptom	3035
Other values (23)	9958

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
Disease or Syndrome	36204	43.1%
Neoplastic Process	22380	26.6%
Mental or Behavioral Dysfunction	9078	10.8%
Pathologic Function	3383	4.0%
Sign or Symptom	3035	3.6%
Finding	2833	3.4%
Congenital Abnormality	2791	3.3%
Experimental Model of Disease	1309	1.6%
Injury or Poisoning	1198	1.4%
Neoplastic Process; Experimental Model of Disease	694	0.8%
Other values (18)	1133	1.3%

Frequencies of value counts

Unique

Unique	3 ?
Unique (%)	< 0.1%

Histogram of lengths of the category

Length

Max length	51
Median length	19
Mean length	20.20069492
Min length	7

score
Real number (ℝ_≥0)

Distinct	70
Distinct (%)	0.1%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	0.3570343178
Minimum	0.3
Maximum	1
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	0.3
5-th percentile	0.3
Q1	0.3
median	0.3
Q3	0.34
95-th percentile	0.7
Maximum	1
Range	0.7
Interquartile range (IQR)	0.04

Descriptive statistics

Standard deviation	0.1231498229
Coefficient of variation (CV)	0.3449243301
Kurtosis	7.601567973
Mean	0.3570343178
Median Absolute Deviation (MAD)	0
Skewness	2.744105646
Sum	30004.45
Variance	0.01516587888
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
0.3	51663	61.5%
0.31	6240	7.4%
0.4	5635	6.7%
0.32	2802	3.3%
0.5	2051	2.4%
0.7	1876	2.2%
0.6	1800	2.1%
0.33	1766	2.1%
0.34	1126	1.3%
0.35	808	1.0%
Other values (60)	8271	9.8%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0.3	51663	61.5%
0.31	6240	7.4%
0.32	2802	3.3%
0.33	1766	2.1%
0.34	1126	1.3%

Value	Count	Frequency (%)
1	380	0.5%
0.99	10	< 0.1%
0.98	15	< 0.1%
0.97	15	< 0.1%
0.96	18	< 0.1%

EI
Real number (ℝ_≥0)

MISSING

Distinct	187
Distinct (%)	0.2%
Missing	4383
Missing (%)	5.2%
Infinite	0
Infinite (%)	0.0%

Mean	0.9915316176
Minimum	0
Maximum	1
Zeros	45
Zeros (%)	0.1%
Memory size	656.5 KiB

Quantile statistics

Minimum	0
5-th percentile	0.967
Q1	1
median	1
Q3	1
95-th percentile	1
Maximum	1
Range	1
Interquartile range (IQR)	0

Descriptive statistics

Standard deviation	0.05104972624
Coefficient of variation (CV)	0.05148572706
Kurtosis	130.6567067
Mean	0.9915316176
Median Absolute Deviation (MAD)	0
Skewness	-9.996256584
Sum	78980.451
Variance	0.002606074549
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
1	74279	88.4%
0.5	279	0.3%
0.8	259	0.3%
0.667	220	0.3%
0.75	216	0.3%
0.857	148	0.2%
0.833	135	0.2%
0.875	121	0.1%
0.909	115	0.1%
0.9	107	0.1%
Other values (177)	3776	4.5%
(Missing)	4383	5.2%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	45	0.1%
0.2	2	< 0.1%
0.25	5	< 0.1%
0.333	21	< 0.1%
0.4	11	< 0.1%

Value	Count	Frequency (%)
1	74279	88.4%
0.997	3	< 0.1%
0.996	2	< 0.1%
0.995	5	< 0.1%
0.994	21	< 0.1%

YearInitial
Real number (ℝ_≥0)

MISSING

Distinct	73
Distinct (%)	0.1%
Missing	4383
Missing (%)	5.2%
Infinite	0
Infinite (%)	0.0%

Mean	2007.110878
Minimum	1924
Maximum	2020
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	1924
5-th percentile	1993
Q1	2003
median	2008
Q3	2013
95-th percentile	2018
Maximum	2020
Range	96
Interquartile range (IQR)	10

Descriptive statistics

Standard deviation	7.905874962
Coefficient of variation (CV)	0.003938932845
Kurtosis	2.99199418
Mean	2007.110878
Median Absolute Deviation (MAD)	5
Skewness	-1.265467877
Sum	159876417
Variance	62.50285892
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
2011	5793	6.9%
2010	5643	6.7%
2008	4572	5.4%
2009	4560	5.4%
2006	3939	4.7%
2014	3897	4.6%
2007	3866	4.6%
2005	3631	4.3%
2012	3457	4.1%
2013	3388	4.0%
Other values (63)	36909	43.9%
(Missing)	4383	5.2%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
1924	1	< 0.1%
1940	2	< 0.1%
1944	1	< 0.1%
1947	1	< 0.1%
1951	1	< 0.1%

Value	Count	Frequency (%)
2020	50	0.1%
2019	1133	1.3%
2018	2957	3.5%
2017	2899	3.4%
2016	2528	3.0%

YearFinal
Real number (ℝ_≥0)

MISSING

Distinct	56
Distinct (%)	0.1%
Missing	4383
Missing (%)	5.2%
Infinite	0
Infinite (%)	0.0%

Mean	2011.928215
Minimum	1962
Maximum	2020
Zeros	0
Zeros (%)	0.0%
Memory size	656.5 KiB

Quantile statistics

Minimum	1962
5-th percentile	2001
Q1	2008
median	2013
Q3	2017
95-th percentile	2019
Maximum	2020
Range	58
Interquartile range (IQR)	9

Descriptive statistics

Standard deviation	6.496091576
Coefficient of variation (CV)	0.003228788943
Kurtosis	3.364900169
Mean	2011.928215
Median Absolute Deviation (MAD)	5
Skewness	-1.330282612
Sum	160260142
Variance	42.19920576
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
2019	9348	11.1%
2018	7132	8.5%
2017	5717	6.8%
2011	5371	6.4%
2010	4985	5.9%
2014	4418	5.3%
2015	4221	5.0%
2016	4074	4.8%
2009	3877	4.6%
2008	3690	4.4%
Other values (46)	26822	31.9%
(Missing)	4383	5.2%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
1962	4	< 0.1%
1966	1	< 0.1%
1967	1	< 0.1%
1968	2	< 0.1%
1969	3	< 0.1%

Value	Count	Frequency (%)
2020	2807	3.3%
2019	9348	11.1%
2018	7132	8.5%
2017	5717	6.8%
2016	4074	4.8%

NofPmids
Real number (ℝ_≥0)

ZEROS

Distinct	69
Distinct (%)	0.1%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	1.488017325
Minimum	0
Maximum	136
Zeros	7131
Zeros (%)	8.5%
Memory size	656.5 KiB

Quantile statistics

Minimum	0
5-th percentile	0
Q1	1
median	1
Q3	1
95-th percentile	4
Maximum	136
Range	136
Interquartile range (IQR)	0

Descriptive statistics

Standard deviation	2.430120834
Coefficient of variation (CV)	1.633126706
Kurtosis	339.3925622
Mean	1.488017325
Median Absolute Deviation (MAD)	0
Skewness	13.29523115
Sum	125050
Variance	5.905487267
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
1	61273	72.9%
2	7638	9.1%
0	7131	8.5%
3	2765	3.3%
4	1543	1.8%
5	1166	1.4%
6	650	0.8%
7	358	0.4%
8	294	0.3%
9	209	0.2%
Other values (59)	1011	1.2%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	7131	8.5%
1	61273	72.9%
2	7638	9.1%
3	2765	3.3%
4	1543	1.8%

Value	Count	Frequency (%)
136	1	< 0.1%
91	2	< 0.1%
84	1	< 0.1%
77	1	< 0.1%
74	2	< 0.1%

NofSnps
Real number (ℝ_≥0)

SKEWED
ZEROS

Distinct	189
Distinct (%)	0.2%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	1.073323972
Minimum	0
Maximum	2632
Zeros	75760
Zeros (%)	90.1%
Memory size	656.5 KiB

Quantile statistics

Minimum	0
5-th percentile	0
Q1	0
median	0
Q3	0
95-th percentile	3
Maximum	2632
Range	2632
Interquartile range (IQR)	0

Descriptive statistics

Standard deviation	17.06011828
Coefficient of variation (CV)	15.89465876
Kurtosis	11343.82071
Mean	1.073323972
Median Absolute Deviation (MAD)	0
Skewness	89.28782133
Sum	90200
Variance	291.0476359
Monotocity	Not monotonic

Histogram with fixed size bins (bins=50)

Value	Count	Frequency (%)
0	75760	90.1%
1	2580	3.1%
2	1193	1.4%
3	796	0.9%
4	569	0.7%
5	406	0.5%
6	358	0.4%
7	273	0.3%
8	205	0.2%
9	203	0.2%
Other values (179)	1695	2.0%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	75760	90.1%
1	2580	3.1%
2	1193	1.4%
3	796	0.9%
4	569	0.7%

Value	Count	Frequency (%)
2632	1	< 0.1%
2258	1	< 0.1%
1252	1	< 0.1%
1160	1	< 0.1%
991	1	< 0.1%

source
Categorical

HIGH CARDINALITY

Distinct	51
Distinct (%)	0.1%
Missing	0
Missing (%)	0.0%
Memory size	656.5 KiB

CTD_human	61485
GENOMICS_ENGLAND	5408
PSYGENET	3159
ORPHANET	3133
UNIPROT	1651
Other values (46)	9202

Frequencies
Length

Common Values
Overview

Value	Count	Frequency (%)
CTD_human	61485	73.2%
GENOMICS_ENGLAND	5408	6.4%
PSYGENET	3159	3.8%
ORPHANET	3133	3.7%
UNIPROT	1651	2.0%
CTD_human;GENOMICS_ENGLAND;UNIPROT	1411	1.7%
CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT	1182	1.4%
CGI	1084	1.3%
CTD_human;GENOMICS_ENGLAND	979	1.2%
CLINGEN	734	0.9%
Other values (41)	3812	4.5%

Frequencies of value counts

Unique

Unique	5 ?
Unique (%)	< 0.1%

Histogram of lengths of the category

Length

Max length	55
Median length	9
Mean length	11.07481139
Min length	3

Pearson's r

The Pearson's correlation coefficient (r) is a measure of linear correlation between two variables. It's value lies between -1 and +1, -1 indicating total negative linear correlation, 0 indicating no linear correlation and 1 indicating total positive linear correlation. Furthermore, r is invariant under separate changes in location and scale of the two variables, implying that for a linear function the angle to the x-axis does not affect r.

To calculate r for two variables X and Y, one divides the covariance of X and Y by the product of their standard deviations.

Spearman's ρ

The Spearman's rank correlation coefficient (ρ) is a measure of monotonic correlation between two variables, and is therefore better in catching nonlinear monotonic correlations than Pearson's r. It's value lies between -1 and +1, -1 indicating total negative monotonic correlation, 0 indicating no monotonic correlation and 1 indicating total positive monotonic correlation.

To calculate ρ for two variables X and Y, one divides the covariance of the rank variables of X and Y by the product of their standard deviations.

Kendall's τ

Similarly to Spearman's rank correlation coefficient, the Kendall rank correlation coefficient (τ) measures ordinal association between two variables. It's value lies between -1 and +1, -1 indicating total negative correlation, 0 indicating no correlation and 1 indicating total positive correlation.

To calculate τ for two variables X and Y, one determines the number of concordant and discordant pairs of observations. τ is given by the number of concordant pairs minus the discordant pairs divided by the total number of pairs.

Phik (φk)

Phik (φk) is a new and practical correlation coefficient that works consistently between categorical, ordinal and interval variables, captures non-linear dependency and reverts to the Pearson correlation coefficient in case of a bivariate normal input distribution. There is extensive documentation available here.

Cramér's V (φc)

Cramér's V is an association measure for nominal random variables. The coefficient ranges from 0 to 1, with 0 indicating independence and 1 indicating perfect association. The empirical estimators used for Cramér's V have been proved to be biased, even for large samples. We use a bias-corrected measure that has been proposed by Bergsma in 2013 that can be found here.

First rows

	geneId	geneSymbol	DSI	DPI	diseaseId	diseaseName	diseaseType	diseaseClass	diseaseSemanticType	score	EI	YearInitial	YearFinal	NofPmids	source
0	1	A1BG	0.700	0.538	C0019209	Hepatomegaly	phenotype	C23;C06	Finding	0.30	1.000	2017.0	2017.0	1	CTD_human
1	1	A1BG	0.700	0.538	C0036341	Schizophrenia	disease	F03	Mental or Behavioral Dysfunction	0.30	1.000	2015.0	2015.0	1	CTD_human
2	2	A2M	0.529	0.769	C0002395	Alzheimer's Disease	disease	C10;F03	Disease or Syndrome	0.50	0.769	1998.0	2018.0	3	CTD_human
3	2	A2M	0.529	0.769	C0007102	Malignant tumor of colon	disease	C06;C04	Neoplastic Process	0.31	1.000	2004.0	2019.0	1	CTD_human
4	2	A2M	0.529	0.769	C0009375	Colonic Neoplasms	group	C06;C04	Neoplastic Process	0.30	1.000	2004.0	2004.0	1	CTD_human
5	2	A2M	0.529	0.769	C0011265	Presenile dementia	disease	C10;F03	Mental or Behavioral Dysfunction	0.30	1.000	1998.0	2004.0	3	CTD_human
6	2	A2M	0.529	0.769	C0011570	Mental Depression	disease	F01	Mental or Behavioral Dysfunction	0.30	1.000	1987.0	2000.0	2	PSYGENET
7	2	A2M	0.529	0.769	C0011581	Depressive disorder	disease	F03	Mental or Behavioral Dysfunction	0.30	1.000	1987.0	2000.0	2	PSYGENET
8	2	A2M	0.529	0.769	C0019202	Hepatolenticular Degeneration	disease	C16;C06;C18;C10	Disease or Syndrome	0.30	1.000	2013.0	2013.0	1	CTD_human
9	2	A2M	0.529	0.769	C0022660	Kidney Failure, Acute	disease	C13;C12	Disease or Syndrome	0.30	1.000	2013.0	2013.0	1	CTD_human

Last rows

	geneId	geneSymbol	DSI	DPI	diseaseId	diseaseName	diseaseType	diseaseClass	diseaseSemanticType	score	EI	YearInitial	YearFinal	NofPmids	source
84028	106481323	RNU6-456P	0.931	0.077	C2931456	Prostate cancer, familial	disease	C04;C12	Neoplastic Process	0.30	1.0	2018.0	2018.0	1	CTD_human
84029	106481323	RNU6-456P	0.931	0.077	C4722327	PROSTATE CANCER, HEREDITARY, 1	disease	C04;C12	Neoplastic Process	0.30	1.0	2018.0	2018.0	1	CTD_human
84030	106783499	OPA8	0.839	0.231	C4085249	OPTIC ATROPHY 8	disease	NaN	Disease or Syndrome	0.30	NaN	NaN	NaN	0	GENOMICS_ENGLAND
84031	107075310	MTCO2P12	0.368	0.962	C0268237	Cytochrome-c Oxidase Deficiency	disease	C16;C18	Disease or Syndrome; Congenital Abnormality	0.33	1.0	1999.0	2011.0	0	GENOMICS_ENGLAND
84032	107305681	DHS6S1	1.000	0.077	C0730294	North Carolina macular dystrophy	disease	C16;C11	Disease or Syndrome	0.50	1.0	2016.0	2016.0	1	CTD_human;ORPHANET
84033	109580095	HBB-LCR	0.743	0.115	C0002875	Cooley's anemia	disease	C16;C15	Disease or Syndrome	0.30	NaN	NaN	NaN	0	CTD_human
84034	109580095	HBB-LCR	0.743	0.115	C0005283	beta Thalassemia	disease	C16;C15	Disease or Syndrome	0.30	NaN	NaN	NaN	0	CTD_human
84035	109580095	HBB-LCR	0.743	0.115	C0019025	Hemoglobin F Disease	disease	C16;C15	Disease or Syndrome	0.30	NaN	NaN	NaN	0	CTD_human
84036	109580095	HBB-LCR	0.743	0.115	C0085578	Thalassemia Minor	disease	C16;C15	Disease or Syndrome	0.30	NaN	NaN	NaN	0	CTD_human
84037	109580095	HBB-LCR	0.743	0.115	C0271979	Thalassemia Intermedia	disease	C16;C15	Disease or Syndrome	0.30	NaN	NaN	NaN	0	CTD_human

Overview

Variables

Interactions

Correlations

Pearson's r

Spearman's ρ

Kendall's τ

Phik (φk)

Cramér's V (φc)

Missing values

Sample

First rows

Last rows